A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

PURPOSE: Current newborn screening programs for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) suffer from a high false positive rate and long turnaround time for clinical follow up. This study aimed to develop a novel proteomics-based assay for rapid and accurate second-tier screening...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Tong, Duong, Phi, Dayuha, Remwilyn, Collins, Christopher J., Beckman, Erika, Thies, Jenny, Chang, Irene, Lam, Christina, Sun, Angela, Scott, Anna I., Thompson, John, Singh, Aranjeet, Khaledi, Hamid, Gelb, Michael H., Hahn, Si Houn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387444/
https://www.ncbi.nlm.nih.gov/pubmed/35787971
http://dx.doi.org/10.1016/j.ymgme.2022.06.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387444/
https://www.ncbi.nlm.nih.gov/pubmed/35787971
http://dx.doi.org/10.1016/j.ymgme.2022.06.006

Ejemplares similares